Rare Disease Library

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

Giant cell arteritis

Horton disease · Temporal arteritis

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Hemoglobin C disease

HbCC disease

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

Human prion disease

TSE · Transmissible spongiform encephalopathy

Huntington disease

Huntington chorea

Huntington disease-like 1

Early-onset prion disease with prominent psychiatric features · HDL1

Huntington disease-like 2

HDL2

Huntington disease-like 3

HDL3

Huntington disease-like syndrome

Huntington disease phenocopy syndrome

Huntington disease-like syndrome due to C9ORF72 expansions

C9ORF72-related Huntington disease phenocopy · C9ORF72-related Huntington disease-like syndrome

Hurler syndrome

Hurler disease · MPS1H

IgA Nephropathy

Berger disease · Berger's disease

Juvenile Huntington disease

JHD · Juvenile Huntington chorea

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Sickle cell disease

HbSS disease · SCD

Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant

HbSS disease · SCD

Sickle cell S-C disease

Hemoglobin S-C disease · HbSC disease

Sickle cell S-D Punjab disease

HbSD disease · Hemoglobin S-D Punjab disease

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

Upington disease

Hip dysplasia-enchondromata-ecchondroma syndrome

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR